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Incidentalome

Gene: SNTA1

Red List (low evidence)
SNTA1 (syntrophin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101400
EnsemblGeneIds (GRCh37): ENSG00000101400
OMIM: 601017, Gene2Phenotype
SNTA1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 12, MIM# 612955

Created: 12 Aug 2022, 4:35 a.m.
Last Modified: 12 Aug 2022, 4:35 a.m.
Panel version: 0.202

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

disputed as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Created: 31 May 2020, 2:14 p.m. | Last Modified: 31 May 2020, 2:14 p.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
long QT syndrome

Publications

Created: 31 May 2020, 2:14 p.m.
Last Modified: 31 May 2020, 2:14 p.m.
Panel version: Imported from Long QT Syndrome panel version 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 12, MIM# 612955
Tags
disputed cardiac
OMIM
601017
Clinvar variants
Variants in SNTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snta1 has been classified as Red List (Low Evidence).

12 Aug 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12, MIM# 612955

12 Aug 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNTA1 were set to

12 Aug 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snta1 has been classified as Red List (Low Evidence).

12 Aug 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SNTA1. Tag cardiac tag was added to gene: SNTA1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNTA1 was added gene: SNTA1 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SNTA1 was set to Unknown